Abbreviations
- ALT:
-
Alanine aminotransferase
- AST:
-
Aspartate aminotransferase
- BMT :
-
Bone marrow transplantation
- CDR3:
-
Complementarity-determining region 3
- GVHD:
-
Graft-versus-host disease
- HSCT:
-
Hematopoietic stem cell transplantation
- iVDRV:
-
Immunodeficiency-related vaccine-derived rubella virus
- PID:
-
Primary immunodeficiency disease
- KRECs:
-
Kappa-deleting recombination excision circles
- PBMCs:
-
Peripheral blood mononuclear cells
- SCID:
-
Severe combined immunodeficiency
- TRECs:
-
T cell receptor excision circles
- VDRV:
-
Vaccine-derived rubella virus
- VZV:
-
Varicella-zoster virus
References
Tingle AJ, Chantler JK, Pot KH, Paty DW, Ford DK. Postpartum rubella immunization: association with development of prolonged arthritis, neurological sequelae, and chronic rubella viremia. J Infect Dis United States. 1985;152:606–12.
Chantler JK, Ford DK, Tingle AJ. Rubella-associated arthritis: rescue of rubella virus from peripheral blood lymphocytes two years postvaccination. Infect Immun. 1981;32:1274–80.
Tingle AJ, Mitchell LA, Grace M, Middleton P, Mathias R, MacWilliam L, et al. Randomised double-blind placebo-controlled study on adverse effects of rubella immunisation in seronegative women. Lancet. 1997;349:1277–81.
Buchbinder D, Hauck F, Albert MH, Rack A, Bakhtiar S, Shcherbina A, et al. Rubella virus-associated cutaneous granulomatous disease: a unique complication in immune-deficient patients, not limited to DNA repair disorders. J Clin Immunol. 2019;39:81–9.
Boone ATS, Chinn IK, Alaez-Versón C, Yamazaki-Nakashimada MA, Carrillo-Sánchez K, de la LH G-CM, et al. Failing to make ends meet: the broad clinical spectrum of DNA ligase IV deficiency. Case series and review of the literature. Front Pediatr. 2019;6:1–13.
Leclerc-Mercier S, Moshous D, Neven B, Mahlaoui N, Martin L, Pellier I, et al. Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature. J Eur Acad Dermatol Venereol. 2019;33:1412–20.
Perelygina L, Plotkin S, Russo P, Hautala T, Bonilla F, Ochs HD, et al. Rubella persistence in epidermal keratinocytes and granuloma M2 macrophages in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2016;138:1436–1439.e11.
Perelygina L, Chen MH, Suppiah S, Adebayo A, Abernathy E, Dorsey M, et al. Infectious vaccine-derived rubella viruses emerge, persist, and evolve in cutaneous granulomas of children with primary immunodeficiencies. PLoS Pathog. 2019;15:e1008080.
O’Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell. 2001;8:1175–85.
Chistiakov DA, Voronova NV, Chistiakov AP. Ligase IV syndrome. Eur J Med Genet. 2009;52:373–8.
Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, et al. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders. J Allergy Clin Immunol. 2018;141:322–8 e10.
Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, et al. Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. Clin Immunol. 2015;160:255–60.
Acknowledgments
We thank Drs. Harutaka Katano and Hideki Hasegawa at the Department of Pathology, National Institute of Infectious Diseases, for performing the immunohistochemical staining of rubella antigen, and Drs. Tzu-Wen Yeh and Kay Tanita for their technical assistance. We also thank Enago (www.enago.jp) for the English language review.
Funding
This work was supported by the MEXT/JSPS KAKENHI (Grant Number: JP17K10099) to HK.
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KM contributed to data collection and writing of the manuscript. AH and TK performed the genetic analysis. YM performed the virological study. MH contributed to the pathological diagnosis. KM, AH, AN, MS, CN, KW, NM, MT, and KI treated the patient. SN and TM supervised the study. HK conceptualized the study and extensively edited and revised the manuscript.
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Matsumoto, K., Hoshino, A., Nishimura, A. et al. DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection. J Clin Immunol 40, 1187–1190 (2020). https://doi.org/10.1007/s10875-020-00831-5
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DOI: https://doi.org/10.1007/s10875-020-00831-5